Chips, Cheese and Sometimes Marshmallows

Life with 2q23.1 microdeletion syndrome (chromosome 2)

Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...

Asia's List of Symptoms (2q23.1)

Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:

At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.

~This list may be edited with new information~
There are additional symptoms with this rare syndrome that Asia does not have.

Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.

Conact Info and Support Group

2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions at seasonatwater@gmail.com

Tuesday, January 29, 2013

Swearing in my head.

Quick note on today. Left another message for Dr to return phone call. Turned my alarm off this morning accidentally. This being positive and negative. Positive- It gave Asia more time to sleep and wake on her own-Negative, I had to drive her to school in the snow storm. Oh well, she was in a pretty good mood this morning. Left her "favorite" book at school yesterday so she wigged out a little that she didn't have it this morning. Cried a little when I left her at school but was easily distracted by the computer her teacher lead her to. After school began a series of tantrums but, she was extremely tough today and she really pushed my buttons. I was ready to put her in bed after being scratched in the face, hit many times, kicked, hair-pulled, food thrown at me and when dressing her in pj's actually got a few kicks to the head-I probably swore a few times in my head. Nothing stood out today except that she got to wake on her own and that may have helped her am mood? Hope tomorrow is calmer:)
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